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Items: 4

Select item 78039141.

Defining the phenotypical spectrum associated with variants in TUBB2A

Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, Kathelijn Keymolen, Luc Régal, Romina Romaniello, Dagmar Wieczorek, Tim Matthias Storm, Karin Schaeferhoff, Ute Hehr, Alma Kuechler, Ingeborg Krägeloh-Mann, Tobias B Haack, Esmee Kasteleijn, Rachel Schot, Grazia Maria Simonetta Mancini, Richard Webster, Shekeeb Mohammad, Richard J Leventer, Ghayda Mirzaa, William B Dobyns, Nadia Bahi-Buisson, Marije Meuwissen, Anna C Jansen, Katrien Stouffs

J Med Genet. 2021 Jan; 58(1): 33–40. Published online 2020 Jun 22. doi: 10.1136/jmedgenet-2019-106740

PMCID:: PMC7803914

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Select item 59457752.

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

Fanny Kortüm, Rami Abou Jamra, Malik Alawi, Susan A. Berry, Guntram Borck, Katherine L. Helbig, Sha Tang, Dagmar Huhle, Georg Christoph Korenke, Malavika Hebbar, Anju Shukla, Katta M. Girisha, Maja Steinlin, Sandra Waldmeier-Wilhelm, Martino Montomoli, Renzo Guerrini, Johannes R. Lemke, Kerstin Kutsche

Eur J Hum Genet. 2018 May; 26(5): 695–708. Published online 2018 Feb 20. doi: 10.1038/s41431-018-0098-2

PMCID:: PMC5945775

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Select item 36985583.

Natural History of Christianson Syndrome

Richard J. Schroer, Kenton R. Holden, Patrick S. Tarpey, Maria Giselle Matheus, David A. Griesemer, Michael J. Friez, Jane Zheng Fan, Richard J. Simensen, Petter Strømme, Roger E. Stevenson, Michael R. Stratton, Charles E. Schwartz

Am J Med Genet A. Author manuscript; available in PMC 2013 Jul 2.

Published in final edited form as: Am J Med Genet A. 2010 Nov; 0(11): 2775–2783. doi: 10.1002/ajmg.a.33093